Pavel Votypka

Affiliations

Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic.

ORCID: 0000-0002-3540-000X

Publications (5)

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Journal of the American Heart Association

Avec: Jiri Bonaventura , Ethan J Rowin , Raymond H Chan , Michael T Chin , Veronika Puchnerova , Eva Polakova , Milan Macek , Pavel Votypka , Rebecca Batorsky , Gayani Perera , Benjamin Koethe , Josef Veselka , Barry J Maron , Martin S Maron

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

Human mutation

Avec: Jotte Rodrigues Bento , Alice Krebsová , Ilse Van Gucht , Irene Valdivia Callejon , An Van Berendoncks , Pavel Votypka , Ilse Luyckx , Petra Peldova , Steven Laga , Marek Havelka , Lut Van Laer , Pavel Trunecka , Nele Boeckx , Aline Verstraeten , Milan Macek , Josephina A N Meester , Bart Loeys

Novel

International journal of molecular sciences

Avec: Ilse Van Gucht , Alice Krebsova , Birgitte Rode Diness , Steven Laga , Dave Adlam , Marlies Kempers , Nilesh J Samani , Tom R Webb , Ania A Baranowska , Lotte Van Den Heuvel , Melanie Perik , Ilse Luyckx , Nils Peeters , Pavel Votypka , Milan Macek , Josephina Meester , Lut Van Laer , Aline Verstraeten , Bart L Loeys

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Anne-Sophie Denommé-Pichon , Leslie Matalonga , Elke de Boer , Adam Jackson , Elisa Benetti , Siddharth Banka , Ange-Line Bruel , Andrea Ciolfi , Jill Clayton-Smith , Bruno Dallapiccola , Yannis Duffourd , Kornelia Ellwanger , Chiara Fallerini , Christian Gilissen , Holm Graessner , Tobias B Haack , Marketa Havlovicova , Alexander Hoischen , Nolwenn Jean-Marçais , Tjitske Kleefstra , Estrella López-Martín , Milan Macek , Maria Antonietta Mencarelli , Sébastien Moutton , Rolph Pfundt , Simone Pizzi , Manuel Posada , Francesca Clementina Radio , Alessandra Renieri , Caroline Rooryck , Lukas Ryba , Hana Safraou , Martin Schwarz , Marco Tartaglia , Christel Thauvin-Robinet , Julien Thevenon , Frédéric Tran Mau-Them , Aurélien Trimouille , Pavel Votypka , Bert B A de Vries , Marjolein H Willemsen , Birte Zurek , Alain Verloes , Christophe Philippe , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Antonio Vitobello , Lisenka E L M Vissers , Laurence Faivre

Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.

Frontiers in medicine

Avec: Ludmila Brunerova , Ondrej Remes , Veronika Zoubkova , Pavel Votypka

Réseau de co-auteurs

Milan Macek 4 collaborations

None None 4 collaborations

Ilse Van Gucht 2 collaborations

Ilse Luyckx 2 collaborations

Steven Laga 2 collaborations

Lut Van Laer 2 collaborations

Aline Verstraeten 2 collaborations

Jiri Bonaventura 1 collaboration

Ethan J Rowin 1 collaboration

Raymond H Chan 1 collaboration

Michael T Chin 1 collaboration

Veronika Puchnerova 1 collaboration

Eva Polakova 1 collaboration

Rebecca Batorsky 1 collaboration

Gayani Perera 1 collaboration

Benjamin Koethe 1 collaboration

Josef Veselka 1 collaboration

Barry J Maron 1 collaboration

Martin S Maron 1 collaboration

Jotte Rodrigues Bento 1 collaboration

Alice Krebsová 1 collaboration

Irene Valdivia Callejon 1 collaboration

An Van Berendoncks 1 collaboration

Petra Peldova 1 collaboration

Marek Havelka 1 collaboration

Pavel Trunecka 1 collaboration

Nele Boeckx 1 collaboration

Josephina A N Meester 1 collaboration

Bart Loeys 1 collaboration

Alice Krebsova 1 collaboration

Birgitte Rode Diness 1 collaboration

Dave Adlam 1 collaboration

Marlies Kempers 1 collaboration

Nilesh J Samani 1 collaboration

Tom R Webb 1 collaboration

Ania A Baranowska 1 collaboration

Lotte Van Den Heuvel 1 collaboration

Melanie Perik 1 collaboration

Nils Peeters 1 collaboration

Josephina Meester 1 collaboration

Bart L Loeys 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Leslie Matalonga 1 collaboration

Elke de Boer 1 collaboration

Adam Jackson 1 collaboration

Elisa Benetti 1 collaboration

Siddharth Banka 1 collaboration

Ange-Line Bruel 1 collaboration

Andrea Ciolfi 1 collaboration

Jill Clayton-Smith 1 collaboration

Bruno Dallapiccola 1 collaboration

Yannis Duffourd 1 collaboration

Kornelia Ellwanger 1 collaboration

Chiara Fallerini 1 collaboration

Christian Gilissen 1 collaboration

Holm Graessner 1 collaboration

Tobias B Haack 1 collaboration

Marketa Havlovicova 1 collaboration

Alexander Hoischen 1 collaboration

Nolwenn Jean-Marçais 1 collaboration

Tjitske Kleefstra 1 collaboration

Estrella López-Martín 1 collaboration

Maria Antonietta Mencarelli 1 collaboration

Sébastien Moutton 1 collaboration

Rolph Pfundt 1 collaboration

Simone Pizzi 1 collaboration

Manuel Posada 1 collaboration

Francesca Clementina Radio 1 collaboration

Alessandra Renieri 1 collaboration

Caroline Rooryck 1 collaboration

Lukas Ryba 1 collaboration

Hana Safraou 1 collaboration

Martin Schwarz 1 collaboration

Marco Tartaglia 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Julien Thevenon 1 collaboration

Frédéric Tran Mau-Them 1 collaboration

Aurélien Trimouille 1 collaboration

Bert B A de Vries 1 collaboration

Marjolein H Willemsen 1 collaboration

Birte Zurek 1 collaboration

Alain Verloes 1 collaboration

Christophe Philippe 1 collaboration

Antonio Vitobello 1 collaboration

Lisenka E L M Vissers 1 collaboration

Laurence Faivre 1 collaboration

Ludmila Brunerova 1 collaboration

Ondrej Remes 1 collaboration

Veronika Zoubkova 1 collaboration